Houeijeh Ali, Andrieux Joris, Saugier-Veber Pascale, David Albert, Goldenberg Alice, Bonneau Dominique, Fouassier Marc, Journel Hubert, Martinovic Jelana, Escande Fabienne, Devisme Louise, Bisiaux Sophie, Chaffiotte Caroline, Baux Mathilde, Kerckaert Jean-Pierre, Holder-Espinasse Muriel, Manouvrier-Hanu Sylvie
Service de Génétique clinique Guy Fontaine, CHRU Lille, France.
Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011.05.001. Epub 2011 May 13.
Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of our patients. We gathered information on 14 patients presenting with TAR syndrome and referred for genetic counselling in six different university hospitals (8 foetuses, 1 child and 5 adults). Clinical or pathology details, as well as skeletal X-rays were analyzed. Genetic studies were performed by Array-CGH, and Quantitative Multiplex PCR. We demonstrated the very variable phenotypes of TAR syndrome. Female:male ratio was ∼2:1. All patients presented with bilateral radial aplasia/hypoplasia with preserved thumbs. Phocomelia and lower limb anomalies were present in 28% of the cases. We reported the first case of cystic hygroma on affected foetus. 1q21.1 deletions ranging from 330 to 1100 kb were identified in all affected patients. Most of them were inherited from one healthy parent (80%). The identification of a 1q21.1 deletion allowed confirmation of TAR syndrome diagnosis, particularly in foetuses and in atypical phenotypes. Additionally, it allowed accurate genetic counselling, especially when it occurred de novo. These findings allowed discussing the diagnostic criteria and management towards TAR syndrome.
血小板减少伴桡骨缺失综合征（TAR）是一种罕见的具有复杂遗传方式的先天性畸形综合征。1q21.1缺失是其发病的必要条件，但并非充分条件。我们报告了一项法国多中心临床研究的结果，并着重阐述了相关的1q21.1缺失在我们患者的诊断和遗传咨询中的作用。我们收集了14例患有TAR综合征并在6家不同大学医院接受遗传咨询的患者信息（8例胎儿、1例儿童和5例成人）。分析了临床或病理细节以及骨骼X线片。通过比较基因组杂交芯片（Array-CGH）和定量多重聚合酶链反应（Quantitative Multiplex PCR）进行基因研究。我们证实了TAR综合征的表型具有很大的变异性。女性与男性的比例约为2:1。所有患者均表现为双侧桡骨发育不全/发育不良，但拇指保留。28%的病例存在短肢畸形和下肢异常。我们报告了首例患胎儿出现囊状水瘤的病例。在所有患病患者中均检测到1q21.1缺失，缺失范围为330至1100 kb。其中大多数是从一位健康的父母遗传而来（80%）。1q21.1缺失的鉴定有助于TAR综合征的诊断，特别是在胎儿和非典型表型中。此外，它有助于进行准确的遗传咨询，尤其是当缺失为新发时。这些发现有助于讨论TAR综合征的诊断标准和治疗方法。
